| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644415C>T | CA278223 | BTD | c.499C>T (p.Pro167Ser) c.399+2358C>T (n.399+2358C>T) c.165+2358C>T (n.165+2358C>T) c.559C>T (p.Pro187Ser) c.565C>T (p.Pro189Ser) c.277C>T (p.Pro93Ser) c.*2277C>T (n.*2277C>T) | ClinVar dbSNP |
| 3 | g.15644415C= | CA1347663623 | BTD | c.499C= (p.Pro167=) c.399+2358C= (n.399+2358C=) c.165+2358C= (n.165+2358C=) c.559C= (p.Pro187=) c.565C= (p.Pro189=) c.277C= (p.Pro93=) c.*2277C= (n.*2277C=) | dbSNP |